A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617033



Internal ID7003919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:43330007..43390261hg38UCSC Ensembl
chr8:43185150..43245404hg19UCSC Ensembl
Cytoband8p11.1
Allele length
AssemblyAllele length
hg3860255
hg1960255
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13186143, essv13186144
SamplesHG00120, NA19323
Known GenesPOTEA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617033
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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